Archives of Medicine and Health Sciences

: 2015  |  Volume : 3  |  Issue : 1  |  Page : 110--112

Role of dental physician in Marfan syndrome

Anusha Rangare Lakshman1, Sham Kishor Kanneppady1, Renita Lorina Castelino2, Preethi Balan2,  
1 Department of Oral Medicine and Radiology, Century International Institute of Dental Science and Research Centre, Poinachi, Kasaragod, Kerala, India
2 Department of Oral Medicine and Radiology, A.B Shetty Memorial Institute of Dental Sciences and Hospital, Deralakatte, Mangalore, India

Correspondence Address:
Dr. Anusha Rangare Lakshman
Department of Oral Medicine and Radiology, Century International Institute of Dental Science and Research Centre, Poinachi, Kasaragod - 671 541, Kerala


Marfan syndrome (MFS) is a variable, autosomal dominant disorder of connective tissue whose cardinal features affect the cardiovascular system, eyes, and skeleton. The patient«SQ»s prognosis depends on the severity of cardiovascular complications and is mainly determined by progressive dilation of the aorta. If signs of MFS are recognized, it is important to refer to the correct health care professional for further testing to prevent associated complications. Hereby, we report a case of MFS who was unaware about the cardiac manifestations, thereby emphasizing the importance in identifying this potentially life-threatening condition in dental practice.

How to cite this article:
Lakshman AR, Kanneppady SK, Castelino RL, Balan P. Role of dental physician in Marfan syndrome.Arch Med Health Sci 2015;3:110-112

How to cite this URL:
Lakshman AR, Kanneppady SK, Castelino RL, Balan P. Role of dental physician in Marfan syndrome. Arch Med Health Sci [serial online] 2015 [cited 2023 Mar 21 ];3:110-112
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Full Text


The National Marfan Foundation describes Marfan syndrome (MFS) as a heritable disorder of the connective tissue that can affect the heart, blood vessels, lungs, eyes, bones, and ligaments. MFS was first described in 1896 by Antoine Bernard Jean Marfan. [1] The syndrome occurs 1 in 10,000 individuals and has an equal distribution between the sexes. [2] It is caused due to mutation in the FBN1 gene located on chromosome 15, band q15-q23 which codes for the connective tissue fibrillin. [3]

 Case Report

We report a case of 14-year-old female patient with the chief complaint of upper proclined anterior teeth. Medical history revealed previous surgery on the right hand wrist 6 years back. No history of any consanguineous marriage and patient has one elder brother who was normal and no one in the family were affected. On general examination, the patient was of tall stature and ectomorphic built with long upper and lower extremeties [Figure 1]a] (informed consent was obtained from the patient for the photographs). The lower segment was found to be greater than the upper segment. Flat foot (pes planus) [Figure 1]b] with the first toe greater than the other toes was observed. The upper extremities showed long spidery fingers (arachnodactyly) [Figure 1]c]. Kyphosis was also noticed. Head and neck examination revealed a convex profile with long and narrow face with incompetent lips [Figure 1]d] and anterior open bite [Figure 1]e]. On temporomandibular joint (TMJ) examination, clicking on right side and deviation of the mandible to the left side were noticed. Intraorally, high arched palate was noticed along with the collapsed maxillary arch [Figure 1]f]. A special clinical test for evaluation of hyperextensibility included thumb (Steinberg) sign [Figure 1]g] and wrist (Walker sign) which were both positive. Patient also gave a positive family history. Later radiographic investigations were performed which included panoramic view [Figure 2]a], lateral cephalometric view [Figure 2]b], TMJ open and close views. TMJ open and close radiograph revealed hypermobility of the both right and left TMJs [Figure 2]c]. Both the clinical and radiographic findings were suggestive of MFS. The patient was then referred for ophthalmologist, reports of which were normal. Cardiac evaluation included color Doppler echocardiography which revealed mild aortic annulus and root dilation with trivial mitral regurgitation, tricuspid regurgitation, and aortic regurgitation after which cardiac treatment was instituted. Dental treatment rendered to the patient involved oral prophylaxis followed by orthodontic treatment.{Figure 1}{Figure 2}


Marfan syndrome is an autosomal dominant genetic connective tissue disorder and classified into two types. Type I or classical MFS is due to mutations in the FBN1 gene located on chromosome 15 cause type I MFS. [4],[5] Type II MFS is less common and is due to a mutation in the gene that encodes transforming growth factor beta receptor-2. Family history may be helpful, but around 27% of cases arise from new mutation. [6] The prevalence of MFS is approximately 1/5000 population [7] and 26% of the cases have no family history. [8],[9] In the present case, it might be due to a new mutation as none of the family members had similar features.

Skeletal manifestations are the cardinal signs of MFS and usually gain the attention of a physician. It includes tall stature with the lower segment of the body greater than the upper segment and long, slender limbs; thin body habitus with increased arm span-to-height ratio; long, arachnodactyly; deformities of the chest, such as pectus carinatum or pectus excavatum, scoliosis and highly arched palate with crowded teeth and dental malocclusion. Other less common manifestations include hypermobility of joints, flat foot (pes planus), reduced extension of elbows (<170°), and elongated face (dolichocephalia). [2],[10] Similar features were found in our case along with the dental manifestations and hypermobility of the TMJs.

Cardiovascular manifestations are the most serious complications and determine the prognosis and survival in MFS. Abnormalities include aortic root dilatation, aortic regurgitation, aortic dissection, and aortic aneurysm, which most commonly involves the ascending aorta but can involve the descending aorta. [11],[12] In the present case, patient was unaware about her cardiovascular manifestations. Hence, a dentist plays a vital role in identifying syndromes and their associated symptoms, thus benefiting the patients from potential and life-threatening complications.

Clinical diagnosis of MFS is challenging because of the increased marfenoid features of other connective tissue diseases. Differential diagnosis could include homocystinuria, familial aortic dissection, familial arachnodactyly, Ehlers-Danlos syndrome and multiple endocrine neoplasia IIb. [12]

Recent studies have shown that gene therapy for patients with MFS is not likely to become reality in the near future. Since a dominant negative mechanism of pathogenesis is assumed to be significant for most cases of MFS, gene therapy for MFS will probably involve the down regulation of the mutant allele by one of a number of methods. [13] Initial experiments suggest that at least the first goal may be reachable; approaches using ribozymes with a sequence complementary to fibrillin mRNA led to specific cleavage of fibrillin mRNA with a corresponding drop in expression of fibrillin protein by transfected cells. [14],[15] Although the ribozymes used in these experiments were targeted to wild type fibrillin-1 sequences, it is also possible to target at least some mutations in a specific manner. [16]

The Berlin diagnostic criteria of MFS of 1988 were revised, and the clinical features codified as the Ghent nosology in 1996. [17] Diagnosis is further complicated by the age dependency of symptoms and signs, which leads to changing clinical picture in younger patients who are suspected with the disorder, but do not fulfill the clinical diagnostic criteria should be offered repeated clinical evaluations. [18] Hence, repeated clinical evaluation was advised for our patient also.


The patient's prognosis depends on the severity of cardiovascular and pulmonary complications. If signs of MFS are recognized, it is important to refer to the correct health care professional for further testing to prevent associated complications. If not properly treated, premature death can occur. Therefore, it is important to identify this potentially life-threatening condition in general practice.


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